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Gene Symbol FANCA
Synonyms FA | FA-H | FA1 | FAA | FACA | FAH | FANCH
Gene Description FANCA, FA complementation group A, is a member of the Fanconi anemia (FA) nuclear complex, which plays a role in DNA repair (PMID: 11673408, PMID: 12509764, PMID: 30057198), and is required for nuclear localization of the FA core complex (PMID: 32002546). Germline FANCA mutations are associated with Fanconi anemia, which involves predisposition to various cancers (PMID: 12509764, PMID: 32235514, PMID: 29098742), including acute myeloid leukemia (PMID: 25455269) and ovarian high-grade serous carcinoma (PMID: 32019284), and loss of FANCA has been reported in prostate cancer (PMID: 31931827).

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Molecular Profile Protein Effect Treatment Approaches
FANCA A1097V unknown
FANCA A181V unknown
FANCA A403V unknown
FANCA A40E unknown
FANCA A412V unknown
FANCA A444V unknown
FANCA A47P unknown
FANCA A586T unknown
FANCA A733P loss of function
FANCA A786V unknown
FANCA A980G unknown
FANCA amp no effect
FANCA C422Y unknown
FANCA C625S unknown
FANCA D1359Y loss of function
FANCA D598N loss of function
FANCA D694Y unknown
FANCA D931H unknown
FANCA D944A loss of function
FANCA D953E unknown
FANCA del loss of function
FANCA E1015* loss of function - predicted
FANCA E1015K unknown
FANCA E1115K unknown
FANCA E1214Q unknown
FANCA E1239_R1243del loss of function
FANCA E1252K unknown
FANCA E1351Q unknown
FANCA E1394Gfs*31 unknown
FANCA E288* loss of function - predicted
FANCA E38K unknown
FANCA E526Q unknown
FANCA E542A unknown
FANCA E682Q unknown
FANCA E698K unknown
FANCA E936G loss of function
FANCA E936K unknown
FANCA E966K unknown
FANCA F1135del loss of function
FANCA F1261L unknown
FANCA F1262L unknown
FANCA F1263del loss of function
FANCA F320L unknown
FANCA F476L unknown
FANCA G1039D unknown
FANCA G115R unknown
FANCA G501S unknown
FANCA G804S unknown
FANCA G809D unknown
FANCA H1110P loss of function
FANCA H1355L unknown
FANCA H1417D no effect - predicted
FANCA H492R loss of function
FANCA H913P loss of function - predicted
FANCA I1300M unknown
FANCA inact mut loss of function
CHEK2 inact mut FANCA inact mut PTEN inact mut
FANCA K1283R unknown
FANCA K143N unknown
FANCA K453N unknown
FANCA K522R unknown
FANCA L1075P unknown
FANCA L1082F unknown
FANCA L1082P loss of function - predicted
FANCA L1083del loss of function
FANCA L1181P loss of function
FANCA L1211I unknown
FANCA L1249V unknown
FANCA L1256Hfs*11 loss of function
FANCA L1305F loss of function
FANCA L1320del unknown
FANCA L1401V unknown
FANCA L185I unknown
FANCA L210R loss of function
FANCA L274P loss of function
FANCA L278R loss of function
FANCA L424V no effect - predicted
FANCA L51M unknown
FANCA L72Cfs*6 loss of function - predicted
FANCA L72fs loss of function - predicted
FANCA L784Ffs*10 loss of function - predicted
FANCA L817P loss of function
FANCA L845P loss of function
FANCA L864I unknown
FANCA L908P unknown
FANCA L946P loss of function
FANCA loss loss of function
FANCA M1024fs loss of function - predicted
FANCA M1024Ifs*4 loss of function - predicted
FANCA M1077I unknown
FANCA M1360I loss of function
FANCA M160I unknown
FANCA M1? loss of function
FANCA M717I unknown
FANCA mutant unknown
FANCA N1003H unknown
FANCA P1175L unknown
FANCA P1222L unknown
FANCA P1324L loss of function
FANCA P496S unknown
FANCA P497L unknown
FANCA P497S loss of function
FANCA P500A unknown
FANCA P615fs loss of function - predicted
FANCA P643A unknown
FANCA P774R unknown
FANCA P808S unknown
FANCA Q1099H no effect
FANCA Q1128E loss of function
FANCA Q1307Sfs*6 unknown
FANCA Q168E unknown
FANCA Q174H unknown
FANCA Q226H unknown
FANCA Q286Rfs*10 loss of function - predicted
FANCA Q326* loss of function - predicted
FANCA Q343* loss of function - predicted
FANCA Q382E unknown
FANCA Q382H unknown
FANCA Q436R loss of function
FANCA Q772* loss of function
FANCA Q772fs loss of function - predicted
FANCA Q772Rfs*5 loss of function - predicted
FANCA Q869* loss of function - predicted
FANCA Q869_F870del loss of function
FANCA Q99* loss of function
FANCA Q993* loss of function - predicted
FANCA R1011H unknown
FANCA R1053C unknown
FANCA R1054* loss of function - predicted
FANCA R1055G unknown
FANCA R1055L loss of function
FANCA R1055W loss of function
FANCA R1084C unknown
FANCA R1117G loss of function
FANCA R1186K unknown
FANCA R1186M unknown
FANCA R1204W unknown
FANCA R1400H loss of function
FANCA R1425C unknown
FANCA R163H unknown
FANCA R435C loss of function
FANCA R435H loss of function
FANCA R435L loss of function
FANCA R52* loss of function - predicted
FANCA R52L unknown
FANCA R52P unknown
FANCA R683I unknown
FANCA R685K unknown
FANCA R756C loss of function - predicted
FANCA R880Q unknown
FANCA R917* loss of function - predicted
FANCA R951Q loss of function - predicted
FANCA R951W loss of function
FANCA S1088F unknown
FANCA S1094G unknown
FANCA S1264Y unknown
FANCA S1416L unknown
FANCA S367I loss of function
FANCA S421N unknown
FANCA S455F unknown
FANCA S46P unknown
FANCA S545I unknown
FANCA S616Y unknown
FANCA S734F unknown
FANCA S858R loss of function - predicted
FANCA S892F unknown
FANCA T1131A unknown
FANCA T1161M unknown
FANCA T1328A no effect
FANCA T256I unknown
FANCA T266A unknown
FANCA T266M unknown
FANCA T949N unknown
FANCA V1112F unknown
FANCA V1112G loss of function
FANCA V1180L unknown
FANCA V1418M no effect
FANCA V230I no effect
FANCA V372Afs*42 loss of function - predicted
FANCA V372fs loss of function - predicted
FANCA V378I loss of function
FANCA V580M unknown
FANCA V677M unknown
FANCA V697I no effect
FANCA V6D no effect
FANCA V888I unknown
FANCA W1174del loss of function
FANCA W1224S loss of function
FANCA W1302R loss of function
FANCA W183A loss of function
FANCA W911fs loss of function - predicted
FANCA W911Sfs*11 loss of function - predicted
FANCA W957G loss of function
FANCA wild-type no effect
FANCA Y448C loss of function
FANCA Y510C loss of function